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Properties
MORBIDMAP
:NAME MM: Angelman syndrome
:MORBID_ID 105830
:NUM 3
:SYM (UBE3A ANCR)
:LOCUS 15q11.2
:OMIM_ID 601623
:SNP ANGELMAN SYNDROME; UBE3A, ARG417TER; rs111033594
ANGELMAN SYNDROME; UBE3A, TRP768TER; rs111033595
ANGELMAN SYNDROME; UBE3A, THR106PRO; rs111033596
ANGELMAN SYNDROME; UBE3A, ILE130THR; rs111033597
:AAUSHI ANGELMAN_SYNDROME
:AAUSHIGENE UBIQUITIN_LIGASE_E3A